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  3. PIGL
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Ocular coloboma

Gene: PIGL

Amber List (moderate evidence)
PIGL (phosphatidylinositol glycan anchor biosynthesis class L)
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 11 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from expert review
Created: 22 Sep 2017, 1:24 p.m.
Created: 22 Sep 2017, 1:24 p.m.

Panel version: 1.9

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed mode of inheritance to biallelic - this is on chromosome 17.
Created: 22 Sep 2017, 1:04 p.m.
Created: 22 Sep 2017, 1:04 p.m.

Panel version: 1.8

Alice Gardham (Genomics England)

I don't know

Mutations found in 6 unrelated individuals. Recognised on G2P
Created: 17 Nov 2016, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, 280000

Publications

Created: 17 Nov 2016, 10:06 a.m.

Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
  • CHIME syndrome, 280000
OMIM
605947
Clinvar variants
Variants in PIGL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Sep 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PIGL were set to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome;CHIME syndrome, 280000

22 Sep 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PIGL was changed to BIALLELIC, autosomal or pseudoautosomal

22 Sep 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PIGL were set to 22444671

22 Sep 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PIGL was changed to BIALLELIC, autosomal or pseudoautosomal

6 Feb 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

PIGL was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

17 Nov 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene PIGL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PIGL was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services